• Gene id: 9455

Gene Summary

• Gene Symbol: HOMER2   Gene   UCSC   Ensembl
• Aliases: ACPD, CPD, DFNA68, HOMER-2, VESL-2
• Gene name: homer scaffold protein 2
• Alternate names: homer protein homolog 2, cupidin, homer homolog 2, homer homolog 3, homer scaffolding protein 2, homer, neuronal immediate early gene, 2,
• Gene location: 15q25.2 (5450502: 5470566)     Exons: 7     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in mul
• OMIM: 604799

Protein Summary

• Protein general information: Q9NSB8  
  • Name: Homer protein homolog 2 (Homer 2) (Cupidin)
  • Length: 354  
  • Mass: 40627
• Sequence:

  MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFG
  QWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDE
  KASHAGPANTHLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRL
  RNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQN
  LEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN

• Structural information:
  • Protein Domains: (1..11-)
    (/note="WH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00410"-)
  • Interpro: IPR011993  IPR000697  
  • Prosite: PS50229
  • STRING: ENSP00000305632
• Other Databases: GeneCards:  HOMER2  Malacards:  HOMER2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001256	regulation of store-operated calcium entry	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0007216	G protein-coupled glutamate receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0035256	G protein-coupled glutamate receptor binding	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0043229	intracellular organelle	ISS	cellular component
GO:0032703	negative regulation of interleukin-2 production	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0007216	G protein-coupled glutamate receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030160	synaptic receptor adaptor activity	IEA	molecular function
GO:0048875	chemical homeostasis within a tissue	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IEA	biological process
GO:0032426	stereocilium tip	IEA	cellular component
GO:0035584	calcium-mediated signaling using intracellular calcium source	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0048148	behavioral response to cocaine	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0035254	glutamate receptor binding	IEA	molecular function
GO:0035256	G protein-coupled glutamate receptor binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse
hsa04068	FoxO signaling pathway

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq